BR112017023109A2 - método, sequências, composições e estojo para detecção de mutações no promotor do gene htert - Google Patents

método, sequências, composições e estojo para detecção de mutações no promotor do gene htert

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Publication number
BR112017023109A2
BR112017023109A2 BR112017023109-3A BR112017023109A BR112017023109A2 BR 112017023109 A2 BR112017023109 A2 BR 112017023109A2 BR 112017023109 A BR112017023109 A BR 112017023109A BR 112017023109 A2 BR112017023109 A2 BR 112017023109A2
Authority
BR
Brazil
Prior art keywords
present
mutations
compositions
kit
sequences
Prior art date
Application number
BR112017023109-3A
Other languages
English (en)
Inventor
Paula Soares Dias Ferreira Ana
João Marques Prazeres Hugo
Miguel Alves Salgado Catarina
Pedro Monteiro Batista Rui
Pedro Rico De Oliveira Vinagre João
Original Assignee
Ipatimup ( Instituto De Patologia E Imunologia Molecular Da Universidade Do Porto)
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Ipatimup ( Instituto De Patologia E Imunologia Molecular Da Universidade Do Porto) filed Critical Ipatimup ( Instituto De Patologia E Imunologia Molecular Da Universidade Do Porto)
Publication of BR112017023109A2 publication Critical patent/BR112017023109A2/pt

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/65—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression using markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/52—Genes encoding for enzymes or proenzymes
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Pathology (AREA)
  • Biomedical Technology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Plant Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

a presente invenção refere-se a um método para detecção das mutações c.-124 c>t e c.-146 c>t no promotor do gene htert. o referido método utiliza composições de reação que compreendem iniciadores para amplificação e sondas para genotipagem. outro aspecto da presente invenção diz respeito aos referidos iniciadores e sondas para utilização na realização do referido método, cujas sequências, seq id nr.1 a seq id nr.6, apresentam elevada especificidade para estas mutações, bem como às composições que os contêm. a presente invenção refere-se ainda a um estojo, que compreende as composições acima mencionadas, para detecção das mutações c.-124 c>t e c.-146 c>t no promotor do gene htert, através da realização do método da presente invenção. o método, sequências genéticas, composições e estojo da presente invenção podem ser vantajosamente utilizados para detectar quantidades vestigiais das mutações c.-124c>t e c.-146c>t, presentes em amostras biológicas, devido à sua elevada sensibilidade e especificidade para as referidas mutações. a presente invenção pode assim ser aplicada na detecção precoce, identificação, detecção de recorrência ou previsão e monitorização de patologias associadas a este tipo de mutações, como por exemplo carcinomas da bexiga, tiróide, epidermóide, das células basais, melanoma, gliomas e hepatocarcinomas, entre outros e eventualmente servir de base para a definição de tratamento adequado. desta forma, a presente invenção insere-se na área técnica da medicina, farmacêutica
BR112017023109-3A 2015-04-30 2016-05-02 método, sequências, composições e estojo para detecção de mutações no promotor do gene htert BR112017023109A2 (pt)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
PT108419A PT108419B (pt) 2015-04-30 2015-04-30 Método, sequências, composições e estojo para detecção de mutações no promotor do gene htert
PT108419 2015-04-30
PCT/PT2016/050007 WO2016175672A1 (pt) 2015-04-30 2016-05-02 Método, sequências, composições e estojo para detecção de mutações no promotor do gene htert

Publications (1)

Publication Number Publication Date
BR112017023109A2 true BR112017023109A2 (pt) 2018-07-10

Family

ID=56236045

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112017023109-3A BR112017023109A2 (pt) 2015-04-30 2016-05-02 método, sequências, composições e estojo para detecção de mutações no promotor do gene htert

Country Status (9)

Country Link
US (1) US20180155793A1 (pt)
EP (1) EP3301186B1 (pt)
CN (1) CN109790580A (pt)
AU (1) AU2016256302B2 (pt)
BR (1) BR112017023109A2 (pt)
CA (1) CA2984516C (pt)
PT (1) PT108419B (pt)
RU (1) RU2720257C2 (pt)
WO (1) WO2016175672A1 (pt)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN111424094A (zh) * 2019-10-18 2020-07-17 航天中心医院 一种检测人tert基因启动子热点突变的方法
CN110724742A (zh) * 2019-10-18 2020-01-24 航天中心医院 一种检测人tert基因启动子热点突变的试剂盒

Family Cites Families (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2014160834A1 (en) 2013-03-27 2014-10-02 The Johns Hopkins University Tert promoter mutations in cancer
WO2015049063A1 (en) * 2013-10-02 2015-04-09 Deutsches Krebsforschungszentrum Stiftung des öffentlichen Rechts Human tert promoter variants, as well as kits, methods and uses thereof
WO2015153808A1 (en) 2014-04-01 2015-10-08 The Johns Hopkins University Tert and braf mutations in human cancer

Also Published As

Publication number Publication date
EP3301186B1 (en) 2021-01-27
AU2016256302A1 (en) 2017-11-30
EP3301186A1 (en) 2018-04-04
CA2984516A1 (en) 2016-11-03
PT108419A (pt) 2016-10-31
AU2016256302B2 (en) 2022-02-24
RU2017141563A3 (pt) 2020-02-19
RU2720257C2 (ru) 2020-04-28
US20180155793A1 (en) 2018-06-07
WO2016175672A9 (pt) 2018-04-26
CA2984516C (en) 2024-01-09
PT108419B (pt) 2021-03-16
CN109790580A (zh) 2019-05-21
RU2017141563A (ru) 2019-05-31
WO2016175672A1 (pt) 2016-11-03

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B07D Technical examination (opinion) related to article 229 of industrial property law [chapter 7.4 patent gazette]

Free format text: DE ACORDO COM O ARTIGO 229-C DA LEI NO 10196/2001, QUE MODIFICOU A LEI NO 9279/96, A CONCESSAO DA PATENTE ESTA CONDICIONADA A ANUENCIA PREVIA DA ANVISA. CONSIDERANDO A APROVACAO DOS TERMOS DO PARECER NO 337/PGF/EA/2010, BEM COMO A PORTARIA INTERMINISTERIAL NO 1065 DE 24/05/2012, ENCAMINHA-SE O PRESENTE PEDIDO PARA AS PROVIDENCIAS CABIVEIS.

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